Irrelevance of USF2 rs916145 polymorphism with the risk of biliary atresia susceptibility in Southern Chinese children.

Lei Chen,Jinglu Zhao,Ledong Tan,Ming Fu,Jixiao Zeng,Qian Zhong,Ruisui Zhong,Yuzhen Lin,Xiaogang Xu,Ruizhong Zhang

doi:10.1042/bsr20193623

Abstract

Backgrounds: Biliary atresia (BA) is a very rare neonatal disease, however, it has been the most common cause of obstructive jaundice in infancy. The complex pathogenesis of BA is not entirely clear and a lot of possible pathogenic mechanisms have been proposed to explain the etiology of BA, including genetic, inflammatory, environmental and developmental abnormalities. As a transcription factor, USF2 gene rs916145 polymorphism has been shown to be related to the risk of BA.Methods: We examined the USF2 rs916145 genotype in a large case–control study consisting of 506 BA patients and 1473 healthy controls, using the MassARRAY iPLEX Gold system (Sequenom). Odds ratios (ORs) and 95% confidence intervals (CIs) were used to evaluate the association between the USF2 gene rs916145 polymorphism and BA susceptibility.Results: The frequency of different genotypes showed no statistical significance (GG/GC, OR: 1.09, P=0.470, 95% CI: 0.87–1.35; GG/CC, OR: 0.86, P=0.378, 95% CI: 0.62–1.20). No obvious association was revealed between the USF2 gene rs916145 polymorphism and BA susceptibility.Conclusion: USF2 rs916145 polymorphism may not be the best predictor of BA.

Highlights

Biliary atresia (BA) is a very rare neonatal disease, this is the most common cause of obstructive jaundice in infants
The single nucleotide polymorphism (SNP) rs916145 of USF2 gene was examined in 506 cases and 1473 controls, which was consistent with HWE (HWE = 0.965) in the healthy controls
Genome-wide association studies (GWAS) that investigate the association of SNPs with diseases are usually taken to inquire the genetic underpinning of BA

Summary

Introduction

Biliary atresia (BA) is a very rare neonatal disease, this is the most common cause of obstructive jaundice in infants. BA manifests itself as the obliteration of the extrahepatic bile ducts, disrupting bile flow [2]. The incidence of BA shows various results in different racial groups, which is more common in Asian populations than that in West Europe (approximately 1/5000 Asians vs 1/18000 whites) [3]. The first choice for improving the short-term outcome in BA children is hepatoportoenterostomy (HPE) after surgical removal of duct remnants, most of them will progress to end-stage cirrhosis, eventually requiring liver transplant by adulthood [4,5]. Changing the poor perception of BA pathogenesis is a huge challenge as well as a hope for improvements of BA prognosis

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Results

Conclusion